Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism.
|
31743498 |
2019 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report.
|
29742732 |
2018 |
Protein S Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings confirm the value of a cut-off FPS level for identifying subjects at increased VTE risk far below the lower limit of the normal range and suggest a place for PROS1 genotyping in PSD diagnosis strategy.
|
26466767 |
2016 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family.
|
27846449 |
2016 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We herein describe a Korean man with protein S deficiency from a novel nonsense mutation of PROS1.
|
25255242 |
2015 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PROS1 were detected in 5 patients and 5 controls reinforcing the observation that inherited protein S deficiency is rare in the general population.
|
24014240 |
2013 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Small and large PROS1 deletions but no other types of rearrangements detected in patients with protein S deficiency.
|
22627709 |
2012 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although several case reports have described mesenteric venous thrombosis (MVT) in individuals with PSD, most have just reported decreases in the activity or concentration of protein S. We confirmed a nucleotide alteration of PROS1 associated with PSD.
|
21799399 |
2011 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among all PSD members, a novel missense mutation 1063C→T in exon 10 of protein S alpha (PROS1) was identified, which encoded a substitution of arginine to cysteine at position 355 (R355C) in the first globular domain of laminin A of protein S. Wild-type PROS1 sequences were retained in non-PSD members.
|
21172841 |
2010 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
The aim of this study was to analyze the functional relevance on mRNA and protein expression of 12 natural PROS1 mutations associated with protein S deficiency.
|
18322254 |
2008 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to analyze the functional relevance on mRNA and protein expression of 12 natural PROS1 mutations associated with protein S deficiency.
|
18322254 |
2008 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, recent studies on the presence of large deletions in PROS1 have increased the number of PSD associated to PROS1 mutations.
|
17849042 |
2007 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Furthermore, recent studies on the presence of large deletions in PROS1 have increased the number of PSD associated to PROS1 mutations.
|
17849042 |
2007 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
With this as background, we evaluated the association of p.Pro667Pro dimorphism with free and total protein S centrally measured in a panel of 119 normal controls, 222 individuals with low protein S and 137 individuals with normal PS levels belonging to 76 families with protein S deficiency enrolled in the ProSIT study.
|
17157360 |
2007 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Screening for large deletions in PROS1 might be warranted in PROS1 causative point mutation-negative DVT patients with protein S deficiency.
|
17938802 |
2007 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Screening for large deletions in PROS1 might be warranted in PROS1 causative point mutation-negative DVT patients with protein S deficiency.
|
17938802 |
2007 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Characterization of endoplasmic reticulum-associated degradation of a protein S mutant identified in a family of quantitative protein S deficiency.
|
15893367 |
2006 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
|
16868938 |
2006 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.
|
16885060 |
2006 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency.
|
16363235 |
2005 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency.
|
16363235 |
2005 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1.
|
15550022 |
2004 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have identified 2 PROS1 missense mutations in the exon that encodes the vitamin K-dependent Gla domain of protein S (Gly11Asp and Thr37Met) in kindred with phenotypic protein S deficiency and thrombosis.
|
12351389 |
2002 |
Protein S Deficiency
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Twenty-eight index patients with protein S deficiency and a PROS1 gene defect were studied, together with 109 first-degree relatives.
|
10706858 |
2000 |
Protein S Deficiency
|
0.400 |
Biomarker
|
disease |
BEFREE |
After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor V Leiden mutation and had a functional protein S deficiency as well as anti-protein S and anti-beta 2-glycoprotein I antibodies.
|
10091395 |
1999 |